Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:acanthosis nigricans
go back to main search page
Accession:DOID:3138 term browser browse the term
Definition:A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. (DO)
Synonyms:exact_synonym: Acanthosis Nigrican;   keratosis nigricans
 primary_id: MESH:D000052
 alt_id: OMIM:100600
 xref: EFO:1000660;   GARD:8603;   ICD10CM:L83;   NCI:C26687
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
acanthosis nigricans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP DNA:mutation:cds:c.1988 A>C(p.K650T)(human)
ClinVar Annotator: match by term: Acanthosis nigricans
DNA:mutation:cds:p.K650M(human)		 ClinVar
RGD		 PMID:11055896 PMID:11314002 PMID:16912704 PMID:17875876 PMID:18000903 More... RGD:11568026, RGD:11568054 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP ClinVar Annotator: match by term: Acanthosis nigricans ClinVar PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP ClinVar Annotator: match by term: Acanthosis nigricans ClinVar PMID:25741868 PMID:28492532 PMID:29751792 PMID:31464584 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IEP secondary to insulin resistance; mRNA,protein:decreased expression:muscle RGD PMID:11436180 RGD:1642802 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G TBC1D4 TBC1 domain family member 4 IAGP RGD PMID:19470471 RGD:7248544 NCBI chr13:75,283,503...75,482,169
Ensembl chr13:75,283,503...75,482,169 		JBrowse link
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome
ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson
OMIM:123790
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 IAGP
EXP		 DNA:missense mutation:p.A391E(human)
ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome
ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:1908846 PMID:7493034 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568032 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INSR insulin receptor IAGP
EXP		 ClinVar Annotator: match by term: IRAN, TYPE A
ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1644241 PMID:1963473 PMID:1971035 PMID:2002058 PMID:2040394 More... NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: IRAN, TYPE A ClinVar PMID:15919811 PMID:16478798 PMID:20848652 PMID:23785128 PMID:24033266 More... NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G LOC129391047 MPRA-validated peak3314 silencer IAGP ClinVar Annotator: match by term: IRAN, TYPE A ClinVar NCBI chr19:7,113,365...7,113,565 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9728
      skin disease 4874
        pigmentation disease 362
          acanthosis nigricans 10
            Acanthosis Nigricans Muscle Cramps Acral Enlargement 0
            Beare-Stevenson cutis gyrata syndrome 1
            Crouzon syndrome-acanthosis nigricans syndrome 1
            Familial Acanthosis Nigricans 0
            HAIR-AN syndrome 0
            Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans 3
            Lelis Syndrome 0
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9728
            skin disease 4874
              pigmentation disease 362
                Hyperpigmentation 75
                  Melanosis 63
                    acanthosis nigricans 10
                      Acanthosis Nigricans Muscle Cramps Acral Enlargement 0
                      Beare-Stevenson cutis gyrata syndrome 1
                      Crouzon syndrome-acanthosis nigricans syndrome 1
                      Familial Acanthosis Nigricans 0
                      HAIR-AN syndrome 0
                      Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans 3
                      Lelis Syndrome 0
paths to the root